Research output per year
Research output per year
Personal profile
Research interests
Rare Diseases, Dysmorphology, Genomic Medicine, Genetic Diagnostics of Rare Diseases and Syndromes with or without Intellectual Disability, Clinical Genetics, and Genetic Counselling.
External positions
Head of Department, Odense University Hospital
1. Mar 2010 → …Fingerprint
Dive into the research topics where Lilian Bomme Ousager is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review
Chayed, Z., Kristensen, L. K., Ousager, L. B., Rønlund, K. & Bygum, A., 18. Jan 2021, In: Orphanet Journal of Rare Diseases. 16, 1, p. 34Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
A novel homozygous SLURP1 variant in a boy with Mal de Meleda born to non-consanguineous parents
Gram, S. B., Blechingberg, J., Brusgaard, K., Bygum, A. & Ousager, L. B., 1. Dec 2020, In: European Journal of Human Genetics. 28, Suppl. 1, p. 840 1 p., E-P04.47.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis
Kdissa, A., Brusgaard, K., Ksiaa, M., Golli, L., Hallara, O., Ousager, L. B., Manoubi, W., Seghaier, R. B., Adala, L., Halleb, Y., Saad, A., Hmila, F. & Gribaa, M., Jan 2020, In: Cancer genetics and cytogenetics. 240, p. 45-53Research output: Contribution to journal › Journal article › Research › peer-review
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Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
Aagaard, K. S., Brusgaard, K., Miceikaite, I., Larsen, M. J., Kjeldsen, A. D., Lester, E. B., Ousager, L. B. & Tørring, P. M., Nov 2020, In: Molecular Genetics and Genomic Medicine. 8, 11, 8 p., e1498.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
Lessons learned from 40 novel PIGA patients and a review of the literature
Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Stefan Barakat, T., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A-M., Hansen, L. & 34 others, , Jun 2020, In: Epilepsia. 61, 6, p. 1142-1155Research output: Contribution to journal › Journal article › Research › peer-review
Press / Media
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Lillian Bomme Ousager er udnævnt til professor
07/09/2020
1 Media contribution
Press/Media: Press / Media
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Lillian Bomme Ousager er udnævnt til professor
07/09/2020
1 Media contribution
Press/Media: Press / Media
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Lillian Bomme Ousager er udnævnt til professor i genetik
01/09/2020
1 Media contribution
Press/Media: Press / Media
Prizes
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Ingeborg og Leo Dannins Legat for Videnskabelig Forskning
Ousager, Lilian Bomme (Recipient), 23. Mar 1999
Prize: Prizes, scholarships, distinctions
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Poster prize for best poster at the Danish Cancer Society research symposia.
Ousager, Lilian Bomme (Recipient), 1997
Prize: Prizes, scholarships, distinctions
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